G22C (p.Gly22Cys) variant of RASA1 (Ras GTPase-activating protein 1)
G22C (p.Gly22Cys) in RASA1 (Ras GTPase-activating protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; Capillary malformation-arteriovenous malformation synd. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G22C (p.Gly22Cys) variant details
- p.Gly22Cys
- rs371413736
- ClinGen CA3335313
- ClinVar RCV000757714
- ClinVar RCV001206753
- Conflicting interpretations
- Cardiovascular phenotype; Capillary malformation-arteriovenous malformation synd
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.30
- CADD 24.10
- PolyPhen-2 0.37
- SIFT 0.05
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Capillary malformation-arteriovenous m)
- EBI: Benign
- UniProt: Benign
- Most common in the REMAINING population (allele frequency 0.00029)
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.102
- Cited in: Capillary Malformation-Arteriovenous Malformation Syndrome. (PMID 21348050)